L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 - Wikidata - awgldk - TriplyDB

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

http://www.wikidata.org/entity/Q28283648

about

Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases Fundamentals of cancer metabolism Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data Plants Possess a Cyclic Mitochondrial Metabolic Pathway similar to the Mammalian Metabolic Repair Mechanism Involving Malate Dehydrogenase and l-2-Hydroxyglutarate Dehydrogenase Metabolite damage and its repair or pre-emption Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading Metabolite proofreading, a neglected aspect of intermediary metabolism.A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Identification of novel L2HGDH gene mutations and update of the pathological spectrum.A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.Hypoxia-Mediated Increases in L-2-hydroxyglutarate Coordinate the Metabolic Response to Reductive Stress Alterations of metabolic genes and metabolites in cancer.Progress in understanding 2-hydroxyglutaric acidurias Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria.L-2 hydroxyglutaric aciduria presenting with status epilepticus Systematic review of autosomal recessive ataxias and proposal for a classification.IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives Advances in the diagnosis of leukoencephalopathies.D-2-hydroxyglutarate is essential for maintaining oncogenic property of mutant IDH-containing cancer cells but dispensable for cell growth.L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.IDH1 mutations inhibit multiple α-ketoglutarate-dependent dioxygenase activities in astroglioma.L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.Wilms tumor in a child with L-2-hydroxyglutaric aciduria.L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.Tracing the origin of L-2-hydroxyglutaric aciduria in a family.L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.L-2-hydroxyglutaric aciduria: report of two Indian families.The TET enzymes.N6-methyladenosine links RNA metabolism to cancer progression.Metabolism, Activity, and Targeting of D- and L-2-Hydroxyglutarates.Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.(S)-2-hydroxyglutarate + FAD => 2-oxoglutarate + FADH2 Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation.

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P2860

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

http://www.wikidata.org/entity/Q28283648

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2004 nî lūn-bûn

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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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L-2-Hydroxyglutaric aciduria: ...... ocalized on chromosome 14q22.1

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L-2-Hydroxyglutaric aciduria: ...... ocalized on chromosome 14q22.1

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L-2-Hydroxyglutaric aciduria: ...... ocalized on chromosome 14q22.1

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L-2-Hydroxyglutaric aciduria: ...... ocalized on chromosome 14q22.1

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Human Molecular Genetics

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L-2-Hydroxyglutaric aciduria: ...... ocalized on chromosome 14q22.1

@en

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Cengiz Yalçinkayal

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Filiz Ozbas Gerceker

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Florence Jobard

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Jean-François Prud'homme

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Judith Fischer

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Meral Ozguc

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Meral Topçu

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Ronald J A Wanders

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Turgay Coskun

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P2860

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

Mitochondrial diseases in man and mouse

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine.

L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.

Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

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2803-11

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scholarly article

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1239437

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10.1093/HMG/DDH300

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22

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13

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